ArticleJournal of neurology2023
Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.
Article in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed.
- Oculopharyngeal Muscular Dystrophy: From Molecular Pathogenesis to Gene Therapy.Molecular neurobiology · 2026Review
- A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.Internal medicine (Tokyo, Japan) · 2026Article
- Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies.Annals of clinical and translational neurology · 2026Article
- Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.Journal of neuromuscular diseases · 2025Review
- Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases.Molecular neurobiology · 2024Review
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
BACKGROUND AND
objectivesOculopharyngodistal myopathy (OPDM) is an autosomal dominant myopathy clinically characterized by distal muscle weakness. Even though the identification of four causative genes, LRP12, GIPC1, NOTCH2NLC and RILPL1, it is unclear whether the myopathy progressed similarly among OPDM subtypes. We aimed to establish diagnostic clues in muscle imaging of OPDM in comparison with clinicopathologically similar oculopharyngeal muscular dystrophy (OPMD).
methodsAxial muscle CT and/or T1-weighted MRI data from 54 genetically confirmed patients with OPDM (OPDM_LRP12; n = 43, OPDM_GIPC1; n = 6, OPDM_NOTCH2NLC; n = 5) and 57 with OPMD were evaluated. We scored the degree of fat infiltration in each muscle by modified Mercuri score and performed hierarchical clustering analyses to classify the patients and infer the pattern of involvement on progression.
resultsAll OPDM subtypes showed a similar pattern of distribution in the affected muscles; soleus and medial gastrocnemius involved in the early stage, followed by tibialis anterior and extensor digitorum longus. For differentiating OPDM and OPMD, severely affected gluteus medius/minimus and adductor magnus was indicative of OPMD. DISCUSSION: We identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history. The results of this study will help in the appropriate intervention based on the diagnosis of OPDM, including its stage.
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